Spondyloenchondrodysplasia
General Information (adopted from Orphanet):
| Synonyms, Signs: |
SPENCD SEM spondylometaphyseal dysplasia with enchondromatous changes spondyloenchondromatosis |
| Number of Symptoms | 31 |
| OrphanetNr: | 1855 |
| OMIM Id: |
271550
|
| ICD-10: |
Q77.7 |
| UMLs: |
C0432222 |
| MeSH: |
C535782 |
| MedDRA: |
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| Snomed: |
254079002 389268008 |
Prevalence, inheritance and age of onset:
| Prevalence: | 36 cases [Orphanet] |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Childhood [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Immunodeficiency syndrome with autoimmunity
-Rare genetic disease -Rare immune disease Spondylometaphyseal dysplasia -Rare bone disease -Rare developmental defect during embryogenesis -Rare genetic disease |
Symptom Information:
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(HPO:0000164) | Abnormality of the teeth | Frequent [Orphanet] | 291 / 7739 | |||
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(HPO:0000684) | Delayed eruption of teeth | Frequent [Orphanet] | 117 / 7739 | |||
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(HPO:0002478) | Progressive spastic quadriplegia | 7 / 7739 | ||||
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(HPO:0001249) | Intellectual disability | Occasional [HPO:probinson] | 1089 / 7739 | |||
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(HPO:0001257) | Spasticity | 251 / 7739 | ||||
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(HPO:0000926) | Platyspondyly | 150 / 7739 | ||||
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(HPO:0004039) | Abnormality of ulnar metaphysis | 1 / 7739 | ||||
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(HPO:0003521) | Disproportionate short-trunk short stature | 29 / 7739 | ||||
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(HPO:0003312) | Abnormal form of the vertebral bodies | Very frequent [Orphanet] | 172 / 7739 | |||
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(HPO:0002938) | Lumbar hyperlordosis | 73 / 7739 | ||||
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(HPO:0003307) | Hyperlordosis | Very frequent [Orphanet] | 122 / 7739 | |||
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(HPO:0002983) | Micromelia | 130 / 7739 | ||||
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(HPO:0005868) | Metaphyseal enchondromatosis | 1 / 7739 | ||||
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(HPO:0002657) | Spondylometaphyseal dysplasia | 12 / 7739 | ||||
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(HPO:0004015) | Abnormality of radial metaphyses | 1 / 7739 | ||||
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(HPO:0008905) | Rhizomelia | Very frequent [Orphanet] | 85 / 7739 | |||
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(HPO:0006491) | Abnormality of the tibial metaphysis | 1 / 7739 | ||||
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(HPO:0002514) | Cerebral calcification | 89 / 7739 | ||||
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(HPO:0000944) | Abnormality of the metaphyses | Very frequent [Orphanet] | 141 / 7739 | |||
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(HPO:0005701) | Multiple enchondromatosis | Very frequent [Orphanet] | 11 / 7739 | |||
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(HPO:0002751) | Kyphoscoliosis | 131 / 7739 | ||||
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(HPO:0011867) | Abnormality of the wing of the ilium | Frequent [Orphanet] | 123 / 7739 | |||
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(HPO:0005930) | Abnormality of epiphysis morphology | Frequent [Orphanet] | 119 / 7739 | |||
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(HPO:0002808) | Kyphosis | Very frequent [Orphanet] | 289 / 7739 | |||
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(HPO:0004322) | Short stature | Very frequent [Orphanet] | 1232 / 7739 | |||
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(OMIM) | Symmetric radiolucencies in long bone metaphyses | 1 / 7739 | ||||
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(OMIM) | Short limbs | 17 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(OMIM) | Posterior vertebral body radiolucencies | 1 / 7739 | ||||
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(OMIM) | Mental retardation, variable | 7 / 7739 | ||||
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(OMIM) | CNS calcifications, esp. basal ganglia, on CT scan | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|
Additional Information:
| Description: (OMIM) |
Spondyloenchondrodysplasia is a rare skeletal dysplasia involving vertebral dysplasia and enchondroma-like lesions in the pelvis and long bones. The vertebral bodies show dorsally accentuated platyspondyly with disturbance of ossification. Clinical abnormalities such as short stature, rhizomelic micromelia, increased ... |
| Clinical Description OMIM |
Schorr et al. (1976) described enchondromatosis, similar to that of Ollier disease (166000), in association with platyspondyly in 2 sons of first-cousin parents of Iraqi Jewish background. Both boys had short stature and normal intelligence. Spranger ... |